Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.

We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities.

Comparative Study of the Nutritional, Phytochemical, Sensory Characteristics and Glycemic Response of Cookies Enriched with Lupin Sprout Flour and Lupin Green Sprout.

This study aimed to compare the nutritional, phytochemical, and sensory characteristics of wheat flour (WF) cookies enriched with different proportions of lupin sprout flour (LSF) and those with different proportions of lupin green sprout (LGS). To achieve this, a control cookie (CC); three cookies with 10%, 20%, and 30% of LSF, respectively, CLSF1, CLSF2, and CLSF3; and three other cookies (CLGS1, CLGS2, and CLGS3) with 10%, 20%, and 30%, respectively, were produced. The proximate composition of each cookie was analyzed using AOAC methods.

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.

Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population.

Thermophysical Characteristics of Clay for Efficient Rammed Earth Wall Construction.

This case study focuses on twelve compacted clay soil samples to understand their fundamental physical and thermal properties. For each sample, the density, thermal conductivity, thermal diffusivity, specific heat, and drying shrinkage were assessed. The identification and characterisation of the materials were also carried out by positioning them into the ternary diagram based on the percentage of sand, silt, and clay.

Strategies to Formulate Value-Added Pastry Products from Composite Flours Based on Spelt Flour and Grape Pomace Powder.

In recent years, sustainability has promoted new research to develop reformulation strategies for value-added food products by exploiting grape pomace. Grape pomace powder (GP) was used to substitute spelt flour (SF) at 0, 5, 10, 15, 20 and 25% to obtain three types of fortified pastry products: biscuits and cakes involving a chemical leavening agent, and rolls leavened by yeast. Proximate composition, total phenolic content (TPC), total flavonoids content (TFC), 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical scavenging activity and ferric-reducing antioxidant power (FRAP) along with physical characteristics and sensory analysis of the enriched products were considered.